In November last year, the family did a genetic test. Each collected a vial of blood, with the refrigerant sealed, to the hospital’s research department to do genetic testing. After waiting 25 days, a doctor telephoned the laboratory informed of the results, not found point mutations in 76 cases.
Molecular Diagnostic DNA lab tests for DMD/BMD & SMA
Genetic lab tests is often the best way to verify a diagnosis in a patient with signs or symptoms suggestive of a hereditary disease. Gene analyze also known as DNA dependent tests are performed on bloodstream samples using superior PCR (Polymerase Chain Reaction) techniques.
Testing using DNA-based PCR technology is now the preferred diagnostic analyze for one of the most common & severe Neuromuscular Disorders, namely Duchenne Muscular Dystrophy (DMD)/ Becker Muscular Dystrophy (BMD) and Spinal Muscular Atrophy (SMA). These diseases are brought on by mutations i.e. changes, in different genes, hence are called hereditary disorders.
Genetic analyze by PCR dependent procedures
Specific and exact diagnosis for DMD/BMD, & SMA
No desire of distressing process of muscle biopsy
No terrible procedures in children and adults, who currently have muscle weakness.
Only 2ml bloodstream sample is needed.
Advantages of Gene Testing;
Accurate diagnosis and identification of the disease.
Earlier initiation of treatment that are generally offered.
Faster and earlier initiation for support & rehabilitation.
Prediction of risk in individuals with family history.
Risk assessment among members of a Patient’s family.
Early detection of the disorder enables
timely choices like family planning.
Duchenne Muscular Dystrophy (DMD) & its milder form, Becker Muscular Dystrophy (BMD): DMD is one of the most recurrent hereditary diseases in humans. About 1 in 3500 men children, independent of their ethnic origin, are born with this particular disease, that is brought on by mutation or damage of the Dystrophin gene located on the X chromosome.
The analyze offered scans 32 exons for deletion mutations. by means of this analyze 90% of deletions are picked up.